Neurodivergence

  I investigated the 17 single nucleotide variants that are some of the ultra-rare de novo variants that are found in children with Attention Deficit Hyperactivity Disorder (ADHD) according to July 2024 published 'Rare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes'. https://www.nature.com/articles/s41467-024-50247-7 5 are novel. 9 are Stop Gained aka Nonsense which are high impact variants in exons that can lead to loss of function. 8 are Missense that are medium impact variants in exon, but one of them involves a Splice Donor that is a high impact varant in an intron that effects splicing (it is with one of the Missense variants).   I used Varsome to get the In-Silico Predictions and HGVS information. I used Ensembl's Variant Effect Predictor (VEP) to get information about the Combined Annotation Dependent Depletion (CADD) scores. I used the HGVS information at ClinGen Allele Registry to get rsID, ClinVar ...

This is a blog post about how I found out about the variants in my genome and the tools that I used to help me understand them.  I got whole genome testing done.  I got my whole genome analyzed by Dante Labs and Sequencing which are companies that specialize in Next-generation Sequencing (NGS) which is a modern method of analyzing genetic material that allows for the rapid sequencing of large amount of DNA or RNA. My mother got her whole genome analyzed by Sequencing.  https://us.dantelabs.com/ https://www.youtube.com/@DanteLabs https://sequencing.com/ https://www.youtube.com/@sequencing I obtained Binary Alignment Map (BAM) file and Variant Call Format (VCF) file from both Dante Labs and Sequencing. https://en.wikipedia.org/wiki/Binary_Alignment_Map https://en.wikipedia.org/wiki/Variant_Call_Format https://www.youtube.com/watch?v=y4KqVfCdLo0 I used Integrative Genomics Viewer (IGV) for finding out variants and their chromosome location with the use of the BAM file and VC...

  This is a blog post about my variants in old Dyslexia-linked genes.    With my being a neurodivergent (having Dyslexia, Dyspraxia, ADHD) with Ataxia, I was very curious about genes associated with Dyslexia.  This concludes my Developmental Neurogenomics series of blog posts.  My Neurological Makeup includes both Neurodivergence and Ataxia https://neurodivergence.blogspot.com/2024/01/my-neurological-makeup-includes-both.html The DRD4 (Dopamine Receptor D4) Gene https://neurodivergence.blogspot.com/2024/01/the-drd4-dopamine-receptor-d4-gene.html My Potential Dyslexia Risk Factors Based On 2022 Published 'Discovery of 42 genome-wide significant loci associated with dyslexia' https://neurodivergence.blogspot.com/2024/02/my-potential-dyslexia-risk-factors.html My Potential ADHD Risk Factors based on 2022 Published 'Genome-wide analyses of ADHD identify 27 risk loci' https://neurodivergence.blogspot.com/2024/03/my-potential-adhd-risk-factors-based-on.html My Potenti...